Our 2021 Research Grant Recipient

We are pleased to announce the recipient of our 2021 Research Grant. 

Ana Angulo-Urarte will receive a $25,000 grant for the project titled “Identifying the molecular impact of PIK3CA variants in PROS towards stratification of patients and personalized medicine.” 

This research project will enhance the fundamental understanding of the physiological and molecular insight into PIK3CA-related overgrowth spectrum (PROS) and address fundamental biological questions concerning who (PiK3CA variant) and how (triggered mechanism) activating PIK3CA variants contribute to the development and severity of PROS conditions.

In April 2020, Ana joined the interdisciplinary team of Mariona Graupera to understand from the developmental and molecular point of view the broad presentation of PROS in patients using both patient samples and complex mice models. In February 2021, the group moved to the Josep Carreras Institute where Ana will drive the PROS research line in the lab of Dr. Graupera.  Please read Ana’s summary of this project below.

Thanks to the close collaboration between clinicians and researchers, we now know that a series of congenital overgrowth conditions, the so-called PIK3CA-related overgrowth spectrum (PROS), are caused by mutations in the PIK3CA gene. The critical mutations found in PIK3CA are not limited to a specific site but can span almost the entire gene.

With this grant, we want to explore whether different mutations able to activate PIK3CA may have an impact in the type and severity of disorder. It has been found that all PROS patients present, to some extent, the vasculature compartment affected. Therefore, we will select patient endothelial-derived cells, the ones lining the internal surface of blood vessels, as a model of study. In these cells, we will look for common and specific molecular and cellular features triggered by different mutations in PIK3CA.

This study will help to identify new biomarkers of PIK3CA-related signaling activation and, eventually, specific targets that can be used to develop personalized therapies in the future.

Ana Angulo-Urarte, PhD

Endothelial Pathobiology and Microenvironment
Institut de Recerca contra la Leucèmia Josep Carreras
Ctra de Can Ruti, Camí de les Escoles s/n
08916 Badalona, Barcelona